Human Gene Set: GOCC_GAMMA_SECRETASE_COMPLEX

For the Mouse gene set with the same name, see GOCC_GAMMA_SECRETASE_COMPLEX

Standard name GOCC_GAMMA_SECRETASE_COMPLEX
Systematic name M25897
Brief description A protein complex that has aspartic-type endopeptidase activity and contains a presenilin catalytic subunit (either PSEN1 or PSEN2), an APH1 subunit (multiple genes and splice variants exist), nicastrin (NCT), and presenilin enhancer (aka PEN-2 or Psenen), as the core complex. Variants of the complex with different subunit compositions differ in localization and specific substrates. Additionally, variants of the complex exist that contain a additional regulatory subunit as well as the four core subunits; known regulatory subunits include gamma-secretase-activating protein (aka gSAP), TMP1 (aka TMED10), and CD147 antigen (aka basigin). Gamma-secretase cleaves type I transmembrane protein substrates, including the cell surface receptor Notch and the amyloid-beta precursor protein. [GOC:krc, PMID:15286082, PMID:15890777, PMID:17047368, PMID:22122073, PMID:25565961, PMID:28320827, PMID:32616437]
Full description or abstract  
Collection C5: Ontology
      GO: Gene Ontology
            GO:CC: GO Cellular Component
Source publication  
Exact source GO:0070765
Related gene sets  
External links http://amigo.geneontology.org/amigo/term/GO:0070765
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Source species Homo sapiens
Contributed by Gene Ontology (Gene Ontology Consortium)
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references  
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Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to GO Release 2024-04-24.

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